Results 81 to 90 of about 902,297 (302)

Alternative splicing: Human disease and quantitative analysis from high-throughput sequencing

Computational and Structural Biotechnology Journal, 2020
Alternative splicing contributes to the majority of protein diversity in higher eukaryotes by allowing one gene to generate multiple distinct protein isoforms. It adds another regulation layer of gene expression.
Wei Jiang, Liang Chen
semanticscholar   +1 more source

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

High‐throughput generic single‐entity sequencing using droplet microfluidics

iMeta
Single‐cell sequencing has revolutionized our understanding of cellular heterogeneity by providing a micro‐level perspective in the past decade. While heterogeneity is fundamental to diverse biological communities, existing platforms are primarily ...
Guoping Wang, Liuyang Zhao, Yu Shi, Fuyang Qu, Yanqiang Ding, Weixin Liu, Changan Liu, Gang Luo, Meiyi Li, Xiaowu Bai, Luoquan Li, Luyao Wang, Chi Chun Wong, Yi‐Ping Ho, Jun Yu   +14 more
doaj   +1 more source

High-resolution, strand-specific R-loop mapping via S9.6-based DNA:RNA ImmunoPrecipitation and high-throughput sequencing.

Nature Protocols, 2019
R-loops are prevalent three-stranded non-B DNA structures composed of an RNA–DNA hybrid and a single strand of DNA. R-loops are implicated in various basic nuclear processes, such as class-switch recombination, transcription termination and chromatin ...
L. Sanz, F. Chédin
semanticscholar   +1 more source

Epigenetic heterogeneity and plasticity in therapy‐induced tumor states through single‐cell multi‐omics

Molecular Oncology, EarlyView.
Single‐cell multi‐omics reveals epigenetic heterogeneity across therapy‐adaptive tumor states, including quiescent/dormant, drug‐tolerant persister, and EMT‐like phenotypes. By linking regulatory features with state‐associated biomarkers, these approaches inform biomarker‐guided therapeutic strategies for evolving tumors.
Hee Jung Kim, Hwiyeong Lee, Jin Hong, Daechan Park   +3 more
wiley   +1 more source

Genome reassembly with high-throughput sequencing data

BMC Genomics, 2013
Motivation Recent studies in genomics have highlighted the significance of structural variation in determining individual variation. Current methods for identifying structural variation, however, are predominantly focused on either assembling whole ...
Parrish Nathaniel, Sudakov Benjamin, Eskin Eleazar   +2 more
doaj   +1 more source

Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders.

Blood, 2019
A targeted high-throughput sequencing (HTS) panel test for clinical diagnostics requires careful consideration of the inclusion of appropriate diagnostic-grade genes, the ability to detect multiple types of genomic variation with high levels of analytic ...
K. Downes, Karyn Megy, Daniel Duarte, Minka J. A. Vries, J. Gebhart, S. Hofer, O. Shamardina, S. Deevi, J. Stephens, R. Mapeta, Salih Tuna, Namir Al Hasso, M. Besser, N. Cooper, L. Daugherty, Nicholas S. Gleadall, D. Greene, M. Haimel, H. Martin, S. Papadia, S. Revel-Vilk, S. Sivapalaratnam, E. Symington, W. Thomas, C. Thys, A. Tolios, C. Penkett, W. Ouwehand, S. Abbs, M. Laffan, E. Turro, Ilenia Simeoni, A. Mumford, Y. Henskens, I. Pabinger, K. Gomez, K. Freson   +36 more
semanticscholar   +1 more source

Automated FRAP microscopy for high‐throughput analysis of protein dynamics in chromatin organization and transcription

FEBS Open Bio, EarlyView.
RoboMic is an automated confocal microscopy pipeline for high‐throughput functional imaging in living cells. Demonstrated with fluorescence recovery after photobleaching (FRAP), it integrates AI‐driven nuclear segmentation, ROI selection, bleaching, and analysis.
Selçuk Yavuz, Bart Geverts, Johan A. Slotman, Andrea Sacchetti, Stefan Prekovic, Martin E. van Royen, Adriaan B. Houtsmuller   +6 more
wiley   +1 more source

SNP discovery by high-throughput sequencing in soybean

BMC Genomics, 2010
Background With the advance of new massively parallel genotyping technologies, quantitative trait loci (QTL) fine mapping and map-based cloning become more achievable in identifying genes for important and complex traits.
Wu Xiaolei, Ren Chengwei, Joshi Trupti, Vuong Tri, Xu Dong, Nguyen Henry T   +5 more
doaj   +1 more source